Canonical Allele Identifier: CA411096638
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 481724
ClinVar RCV Id: RCV000562833
dbSNP Id: rs1064796572

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695736C>A , CM000684.2:g.28695736C>A GRCh38
NC_000022.10:g.29091724C>A , CM000684.1:g.29091724C>A GRCh37
NC_000022.9:g.27421724C>A NCBI36
NG_008150.1:g.51099G>T
NG_008150.2:g.51131G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-494G>T ENSP00000518557.1:n.1009-494G>T
ENST00000402731.6:c.1032G>T ENSP00000384835.2:p.Trp344Cys
ENST00000404276.6:c.1233G>T MANE Select ENSP00000385747.1:p.Trp411Cys
ENST00000425190.7:c.570G>T ENSP00000390244.2:p.Trp190Cys
ENST00000464581.6:c.573G>T ENSP00000483777.2:p.Trp191Cys
ENST00000648295.1:n.785G>T
ENST00000649563.1:c.570G>T ENSP00000496928.1:p.Trp190Cys
ENST00000650281.1:c.1233G>T ENSP00000497000.1:p.Trp411Cys
ENST00000328354.10:c.1233G>T ENSP00000329178.6:p.Trp411Cys
ENST00000348295.7:c.1146G>T ENSP00000329012.5:p.Trp382Cys
ENST00000382580.6:c.1362G>T ENSP00000372023.2:p.Trp454Cys
ENST00000402731.5:c.1146G>T ENSP00000384835.1:p.Trp382Cys
ENST00000403642.5:c.960G>T ENSP00000384919.1:p.Trp320Cys
ENST00000404276.5:c.1233G>T ENSP00000385747.1:p.Trp411Cys
ENST00000405598.5:c.1233G>T ENSP00000386087.1:p.Trp411Cys
ENST00000416671.5:c.*723G>T ENSP00000402225.1:n.*723G>T
ENST00000417588.5:c.1142G>T ENSP00000412901.1:n.1142G>T
ENST00000433728.5:c.1171G>T ENSP00000404400.1:n.1171G>T
ENST00000434810.5:c.464G>T
ENST00000448511.5:c.1123G>T ENSP00000404567.1:n.1123G>T
ENST00000456369.5:c.263+4102G>T
NM_001005735.1:c.1362G>T NP_001005735.1:p.Trp454Cys
NM_001257387.1:c.570G>T NP_001244316.1:p.Trp190Cys
NM_007194.3:c.1233G>T NP_009125.1:p.Trp411Cys
NM_145862.2:c.1146G>T NP_665861.1:p.Trp382Cys
XM_006724114.2:c.753G>T XP_006724177.1:p.Trp251Cys
XM_006724116.2:c.690G>T XP_006724179.2:p.Trp230Cys
XM_011529839.1:c.1392G>T XP_011528141.1:p.Trp464Cys
XM_011529840.1:c.1305G>T XP_011528142.1:p.Trp435Cys
XM_011529841.1:c.1161G>T XP_011528143.1:p.Trp387Cys
XM_011529842.1:c.1062G>T XP_011528144.1:p.Trp354Cys
XM_011529843.1:c.1032G>T XP_011528145.1:p.Trp344Cys
XM_011529845.1:c.570G>T XP_011528147.1:p.Trp190Cys
XR_937805.1:n.1392G>T
NM_001349956.1:c.1032G>T NP_001336885.1:p.Trp344Cys
NM_007194.4:c.1233G>T MANE Select NP_009125.1:p.Trp411Cys
XM_006724114.3:c.786G>T XP_006724177.2:p.Trp262Cys
XM_011529839.2:c.1392G>T XP_011528141.1:p.Trp464Cys
XM_011529840.3:c.1305G>T XP_011528142.1:p.Trp435Cys
XM_011529842.2:c.1062G>T XP_011528144.1:p.Trp354Cys
XM_011529845.2:c.570G>T XP_011528147.1:p.Trp190Cys
XM_017028560.1:c.1356G>T XP_016884049.1:p.Trp452Cys
XM_017028561.2:c.570G>T XP_016884050.1:p.Trp190Cys
XM_024452148.1:c.1263G>T XP_024307916.1:p.Trp421Cys
XM_024452149.1:c.1176G>T XP_024307917.1:p.Trp392Cys
XR_937805.2:n.1403G>T
NM_001005735.2:c.1362G>T NP_001005735.1:p.Trp454Cys
NM_001257387.2:c.570G>T NP_001244316.1:p.Trp190Cys
NM_001349956.2:c.1032G>T NP_001336885.1:p.Trp344Cys